ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu)

dbSNP: rs1574636716
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796023 SCV000935514 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2018-12-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed to be de novo in an individual affected with clinical features consistent with an SCN2A-related condition (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glutamic acid at codon 843 of the SCN2A protein (p.Val843Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid.

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